Canonical Allele Identifier: CA277105
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 210784
ClinVar RCV Id: RCV000193252
dbSNP Id: rs797045498
MyVariant Identifiers: chr16:g.3779111_3779112insA (hg19) chr16:g.3729110_3729111insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729110_3729111insA , CM000678.2:g.3729110_3729111insA GRCh38
NC_000016.9:g.3779111_3779112insA , CM000678.1:g.3779111_3779112insA GRCh37
NC_000016.8:g.3719112_3719113insA NCBI36
NG_009873.1:g.156010_156011insT
NG_009873.2:g.156603_156604insT

Transcript Alleles

HGVS Amino-acid change
ENST00000262367.10:c.5936_5937insT MANE Select ENSP00000262367.5:p.Ser1980GlnfsTer?
ENST00000262367.9:c.5936_5937insT ENSP00000262367.5:p.Ser1980GlnfsTer?
ENST00000382070.7:c.5822_5823insT ENSP00000371502.3:p.Ser1942GlnfsTer?
NM_001079846.1:c.5822_5823insT NP_001073315.1:p.Ser1942GlnfsTer?
NM_004380.2:c.5936_5937insT NP_004371.2:p.Ser1980GlnfsTer?
XM_005255124.3:c.5891_5892insT XP_005255181.1:p.Ser1965GlnfsTer?
XM_005255125.3:c.5519_5520insT XP_005255182.1:p.Ser1841GlnfsTer?
XM_006720848.2:c.5675_5676insT XP_006720911.1:p.Ser1893GlnfsTer?
XM_011522380.1:c.5882_5883insT XP_011520682.1:p.Ser1962GlnfsTer?
XM_011522381.1:c.5183_5184insT XP_011520683.1:p.Ser1729GlnfsTer?
XM_005255124.4:c.5891_5892insT XP_005255181.1:p.Ser1965GlnfsTer?
XM_005255125.4:c.5519_5520insT XP_005255182.1:p.Ser1841GlnfsTer?
XM_006720848.3:c.5675_5676insT XP_006720911.1:p.Ser1893GlnfsTer?
XM_011522381.2:c.5183_5184insT XP_011520683.1:p.Ser1729GlnfsTer?
XM_017022944.1:c.5930_5931insT XP_016878433.1:p.Ser1978GlnfsTer?
NM_004380.3:c.5936_5937insT MANE Select NP_004371.2:p.Ser1980GlnfsTer?
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